Incidental Mutation 'IGL02232:Adam6b'
| ID |
285748 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adam6b
|
| Ensembl Gene |
ENSMUSG00000051804 |
| Gene Name |
a disintegrin and metallopeptidase domain 6B |
| Synonyms |
4930523C11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL02232
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
113453185-113455455 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113454764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 527
(M527T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063317]
|
| AlphaFold |
Q6IMH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063317
AA Change: M527T
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000065529
Gene: ENSMUSG00000051804
AA Change: M527T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pep_M12B_propep
|
30 |
167 |
1.1e-16 |
PFAM |
|
Pfam:Reprolysin
|
223 |
407 |
1.1e-14 |
PFAM |
|
DISIN
|
427 |
502 |
9.2e-33 |
SMART |
|
ACR
|
503 |
640 |
2.74e-60 |
SMART |
|
transmembrane domain
|
704 |
726 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810030O07Rik |
A |
G |
X: 12,530,764 (GRCm39) |
V199A |
possibly damaging |
Het |
| Aco1 |
T |
C |
4: 40,175,996 (GRCm39) |
M210T |
probably damaging |
Het |
| Actr10 |
G |
A |
12: 70,990,289 (GRCm39) |
E114K |
probably benign |
Het |
| Ahi1 |
C |
T |
10: 20,857,274 (GRCm39) |
T623M |
probably damaging |
Het |
| Aldh8a1 |
T |
C |
10: 21,271,545 (GRCm39) |
W424R |
probably damaging |
Het |
| Apeh |
A |
T |
9: 107,969,071 (GRCm39) |
S299T |
probably benign |
Het |
| Bbs5 |
A |
C |
2: 69,485,895 (GRCm39) |
I147L |
probably benign |
Het |
| Bmp2k |
T |
G |
5: 97,179,109 (GRCm39) |
|
probably benign |
Het |
| C2cd6 |
A |
G |
1: 59,101,651 (GRCm39) |
F336S |
probably damaging |
Het |
| Cd274 |
T |
A |
19: 29,359,938 (GRCm39) |
L248M |
probably damaging |
Het |
| Chsy3 |
T |
A |
18: 59,542,383 (GRCm39) |
M507K |
possibly damaging |
Het |
| Clip2 |
T |
C |
5: 134,531,984 (GRCm39) |
N572S |
probably damaging |
Het |
| Commd9 |
A |
G |
2: 101,731,324 (GRCm39) |
T170A |
probably benign |
Het |
| Cpt1c |
G |
A |
7: 44,609,580 (GRCm39) |
S674L |
probably damaging |
Het |
| Dhx33 |
C |
A |
11: 70,878,030 (GRCm39) |
R671L |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,299,386 (GRCm39) |
E1583K |
probably damaging |
Het |
| Eed |
G |
T |
7: 89,621,493 (GRCm39) |
N51K |
probably damaging |
Het |
| Efcab14 |
A |
G |
4: 115,617,261 (GRCm39) |
|
probably benign |
Het |
| Ephb2 |
A |
C |
4: 136,384,762 (GRCm39) |
M884R |
probably damaging |
Het |
| Foxn2 |
G |
T |
17: 88,770,479 (GRCm39) |
A109S |
probably benign |
Het |
| Fut1 |
A |
T |
7: 45,268,871 (GRCm39) |
D220V |
probably damaging |
Het |
| Gm6468 |
C |
T |
5: 95,429,066 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7964 |
A |
T |
7: 83,405,515 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9772 |
C |
T |
17: 22,226,031 (GRCm39) |
|
probably benign |
Het |
| Golph3 |
G |
T |
15: 12,349,578 (GRCm39) |
M199I |
probably benign |
Het |
| Itpr1 |
A |
G |
6: 108,394,884 (GRCm39) |
N1666D |
probably damaging |
Het |
| Itprid1 |
A |
G |
6: 55,944,922 (GRCm39) |
T548A |
unknown |
Het |
| Kif12 |
C |
T |
4: 63,084,732 (GRCm39) |
E529K |
probably benign |
Het |
| Lpp |
C |
T |
16: 24,580,895 (GRCm39) |
R204W |
probably damaging |
Het |
| Lrrc52 |
T |
A |
1: 167,293,949 (GRCm39) |
N112I |
probably damaging |
Het |
| Msi1 |
T |
A |
5: 115,579,506 (GRCm39) |
|
probably null |
Het |
| Nasp |
T |
G |
4: 116,461,997 (GRCm39) |
E170A |
probably damaging |
Het |
| Necab2 |
T |
A |
8: 120,189,391 (GRCm39) |
V187E |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,929,804 (GRCm39) |
E5790G |
probably damaging |
Het |
| Or7e176 |
A |
T |
9: 20,171,511 (GRCm39) |
D125V |
probably damaging |
Het |
| Or9a7 |
A |
G |
6: 40,520,980 (GRCm39) |
L311P |
probably damaging |
Het |
| Pard3b |
C |
T |
1: 62,205,541 (GRCm39) |
T445I |
probably damaging |
Het |
| Pcdh10 |
A |
G |
3: 45,335,377 (GRCm39) |
I564V |
probably benign |
Het |
| Pcdhb22 |
T |
A |
18: 37,653,602 (GRCm39) |
L690Q |
probably damaging |
Het |
| Pemt |
T |
A |
11: 59,867,680 (GRCm39) |
T115S |
probably damaging |
Het |
| Plcl2 |
A |
G |
17: 50,913,669 (GRCm39) |
N226S |
possibly damaging |
Het |
| Ppp6r1 |
A |
G |
7: 4,636,341 (GRCm39) |
S750P |
probably damaging |
Het |
| Prtg |
T |
C |
9: 72,758,771 (GRCm39) |
V375A |
probably damaging |
Het |
| Psd3 |
A |
C |
8: 68,356,797 (GRCm39) |
M673R |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,372,437 (GRCm39) |
I1392V |
probably damaging |
Het |
| Rlf |
G |
A |
4: 121,039,811 (GRCm39) |
T200I |
probably benign |
Het |
| Robo1 |
G |
A |
16: 72,768,872 (GRCm39) |
G479D |
possibly damaging |
Het |
| Rpe65 |
A |
G |
3: 159,309,988 (GRCm39) |
D87G |
possibly damaging |
Het |
| Sema3g |
T |
C |
14: 30,943,181 (GRCm39) |
V148A |
probably damaging |
Het |
| Sgms2 |
G |
A |
3: 131,116,833 (GRCm39) |
P341S |
probably benign |
Het |
| Skint7 |
A |
T |
4: 111,839,225 (GRCm39) |
Q173L |
possibly damaging |
Het |
| Slc2a9 |
G |
A |
5: 38,594,013 (GRCm39) |
A150V |
probably benign |
Het |
| Slc35c2 |
A |
G |
2: 165,124,801 (GRCm39) |
L58P |
probably damaging |
Het |
| Slc7a6 |
G |
A |
8: 106,923,206 (GRCm39) |
C495Y |
possibly damaging |
Het |
| Smurf1 |
G |
A |
5: 144,823,248 (GRCm39) |
P458L |
probably damaging |
Het |
| Spag1 |
C |
T |
15: 36,221,710 (GRCm39) |
T601I |
probably benign |
Het |
| Spink8 |
A |
T |
9: 109,649,665 (GRCm39) |
Q49L |
possibly damaging |
Het |
| Spout1 |
A |
T |
2: 30,065,266 (GRCm39) |
Y284N |
probably damaging |
Het |
| Srrm1 |
A |
T |
4: 135,080,427 (GRCm39) |
M1K |
probably null |
Het |
| Stxbp5l |
A |
G |
16: 37,150,257 (GRCm39) |
L116P |
probably damaging |
Het |
| Tlr9 |
T |
C |
9: 106,102,136 (GRCm39) |
F476L |
probably damaging |
Het |
| Tmem41b |
A |
G |
7: 109,577,960 (GRCm39) |
V108A |
probably damaging |
Het |
| Tra2b |
A |
G |
16: 22,067,790 (GRCm39) |
|
probably benign |
Het |
| Trio |
G |
T |
15: 27,902,647 (GRCm39) |
H271Q |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,723,263 (GRCm39) |
|
probably benign |
Het |
| Usp51 |
A |
T |
X: 151,791,669 (GRCm39) |
H421L |
probably damaging |
Het |
| Vmn2r29 |
A |
T |
7: 7,244,810 (GRCm39) |
W355R |
probably damaging |
Het |
| Vpreb1a |
T |
C |
16: 16,686,603 (GRCm39) |
N96D |
possibly damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
| Zp3r |
C |
A |
1: 130,524,404 (GRCm39) |
C213F |
probably damaging |
Het |
|
| Other mutations in Adam6b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Adam6b
|
APN |
12 |
113,455,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00800:Adam6b
|
APN |
12 |
113,454,062 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01456:Adam6b
|
APN |
12 |
113,455,083 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL03039:Adam6b
|
APN |
12 |
113,454,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03399:Adam6b
|
APN |
12 |
113,454,728 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03412:Adam6b
|
APN |
12 |
113,455,390 (GRCm39) |
nonsense |
probably null |
|
|
R0234:Adam6b
|
UTSW |
12 |
113,454,230 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0234:Adam6b
|
UTSW |
12 |
113,454,230 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0373:Adam6b
|
UTSW |
12 |
113,454,275 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0402:Adam6b
|
UTSW |
12 |
113,453,615 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0420:Adam6b
|
UTSW |
12 |
113,453,614 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0573:Adam6b
|
UTSW |
12 |
113,455,278 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0884:Adam6b
|
UTSW |
12 |
113,454,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1489:Adam6b
|
UTSW |
12 |
113,455,071 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1542:Adam6b
|
UTSW |
12 |
113,454,559 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1591:Adam6b
|
UTSW |
12 |
113,453,452 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1596:Adam6b
|
UTSW |
12 |
113,454,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1675:Adam6b
|
UTSW |
12 |
113,454,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1699:Adam6b
|
UTSW |
12 |
113,454,205 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1818:Adam6b
|
UTSW |
12 |
113,454,876 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1829:Adam6b
|
UTSW |
12 |
113,453,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1851:Adam6b
|
UTSW |
12 |
113,455,442 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1955:Adam6b
|
UTSW |
12 |
113,455,436 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2040:Adam6b
|
UTSW |
12 |
113,454,364 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3820:Adam6b
|
UTSW |
12 |
113,453,984 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4112:Adam6b
|
UTSW |
12 |
113,453,256 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4434:Adam6b
|
UTSW |
12 |
113,454,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4435:Adam6b
|
UTSW |
12 |
113,454,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4437:Adam6b
|
UTSW |
12 |
113,454,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4438:Adam6b
|
UTSW |
12 |
113,454,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4509:Adam6b
|
UTSW |
12 |
113,453,972 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5034:Adam6b
|
UTSW |
12 |
113,454,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5316:Adam6b
|
UTSW |
12 |
113,455,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5330:Adam6b
|
UTSW |
12 |
113,454,200 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R5331:Adam6b
|
UTSW |
12 |
113,454,200 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R5604:Adam6b
|
UTSW |
12 |
113,454,420 (GRCm39) |
nonsense |
probably null |
|
|
R5698:Adam6b
|
UTSW |
12 |
113,455,083 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5877:Adam6b
|
UTSW |
12 |
113,453,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6235:Adam6b
|
UTSW |
12 |
113,455,330 (GRCm39) |
missense |
probably benign |
|
|
R6254:Adam6b
|
UTSW |
12 |
113,453,190 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6371:Adam6b
|
UTSW |
12 |
113,453,894 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6617:Adam6b
|
UTSW |
12 |
113,454,152 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6768:Adam6b
|
UTSW |
12 |
113,453,863 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7002:Adam6b
|
UTSW |
12 |
113,453,327 (GRCm39) |
nonsense |
probably null |
|
|
R7003:Adam6b
|
UTSW |
12 |
113,453,662 (GRCm39) |
nonsense |
probably null |
|
|
R7049:Adam6b
|
UTSW |
12 |
113,454,122 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7313:Adam6b
|
UTSW |
12 |
113,454,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7372:Adam6b
|
UTSW |
12 |
113,453,784 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7684:Adam6b
|
UTSW |
12 |
113,455,196 (GRCm39) |
nonsense |
probably null |
|
|
R7777:Adam6b
|
UTSW |
12 |
113,453,758 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7781:Adam6b
|
UTSW |
12 |
113,454,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7857:Adam6b
|
UTSW |
12 |
113,454,104 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8196:Adam6b
|
UTSW |
12 |
113,454,087 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8423:Adam6b
|
UTSW |
12 |
113,454,530 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8680:Adam6b
|
UTSW |
12 |
113,454,371 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8762:Adam6b
|
UTSW |
12 |
113,453,227 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8792:Adam6b
|
UTSW |
12 |
113,455,310 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8806:Adam6b
|
UTSW |
12 |
113,455,418 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8880:Adam6b
|
UTSW |
12 |
113,454,764 (GRCm39) |
missense |
probably benign |
|
|
R8977:Adam6b
|
UTSW |
12 |
113,453,996 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8987:Adam6b
|
UTSW |
12 |
113,454,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9101:Adam6b
|
UTSW |
12 |
113,455,376 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9103:Adam6b
|
UTSW |
12 |
113,454,558 (GRCm39) |
nonsense |
probably null |
|
|
R9334:Adam6b
|
UTSW |
12 |
113,454,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9641:Adam6b
|
UTSW |
12 |
113,454,176 (GRCm39) |
missense |
probably benign |
|
|
R9683:Adam6b
|
UTSW |
12 |
113,454,176 (GRCm39) |
missense |
probably benign |
|
|
R9796:Adam6b
|
UTSW |
12 |
113,454,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF012:Adam6b
|
UTSW |
12 |
113,453,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF022:Adam6b
|
UTSW |
12 |
113,455,289 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
T0722:Adam6b
|
UTSW |
12 |
113,454,888 (GRCm39) |
missense |
probably benign |
0.11 |
|
T0722:Adam6b
|
UTSW |
12 |
113,453,197 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Posted On |
2015-04-16 |
Incidental Mutation